| http://purl.uniprot.org/citations/9621514 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9621514 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9621514 | http://www.w3.org/2000/01/rdf-schema#comment | "Maturity-onset diabetes of the young (MODY3), a monogenic subtype of non-insulin-dependent diabetes mellitus (NIDDM) with an early age of onset, is characterized by a primary defect in insulin secretion. Recently, it has been shown that mutations of the gene encoding the transcription factor hepatocyte nuclear factor-1 alpha (HNF-1 alpha) cause MODY3. Since NIDDM in Japanese is characterized by insulin secretory defects due to primary beta-cell dysfunction, we screened 60 Japanese nonobese subjects with early-onset NIDDM for mutations in this gene, 45 of whom had a first-degree relative with NIDDM. Direct sequencing of the ten exons and flanking introns of the gene in these subjects identified eight nucleotide substitutions including two amino acid changes, Ile-27-Leu and Ser-487-Asn, the frequencies of which were not significantly different in subjects with early-onset NIDDM and nondiabetic subjects. These results suggest that mutations in the HNF-1 alpha gene are not a major cause of early-onset NIDDM in Japanese."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.org/dc/terms/identifier | "doi:10.1007/s100380050049"xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.org/dc/terms/identifier | "doi:10.1007/s100380050049"xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Shimizu H."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Shimizu H."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Takeda J."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Takeda J."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Yamada S."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Yamada S."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Nishigori H."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Nishigori H."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Takeuchi T."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Takeuchi T."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Utsugi T."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Utsugi T."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Kohama T."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/author | "Kohama T."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/name | "J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/name | "J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/pages | "107-110"xsd:string |
| http://purl.uniprot.org/citations/9621514 | http://purl.uniprot.org/core/pages | "107-110"xsd:string |